Incidental Mutation 'R5532:Arhgap10'
ID |
501182 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap10
|
Ensembl Gene |
ENSMUSG00000037148 |
Gene Name |
Rho GTPase activating protein 10 |
Synonyms |
PSGAP-s, A930033B01Rik, PSGAP-m |
MMRRC Submission |
043090-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
R5532 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 78146701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 234
(N234K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147485
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076316]
[ENSMUST00000210519]
[ENSMUST00000210922]
|
AlphaFold |
Q6Y5D8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076316
AA Change: N234K
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000075658 Gene: ENSMUSG00000037148 AA Change: N234K
Domain | Start | End | E-Value | Type |
Pfam:BAR_3
|
6 |
249 |
3.3e-91 |
PFAM |
PH
|
266 |
374 |
1.93e-6 |
SMART |
RhoGAP
|
393 |
571 |
1.66e-63 |
SMART |
low complexity region
|
633 |
649 |
N/A |
INTRINSIC |
SH3
|
731 |
786 |
1.91e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210519
AA Change: N234K
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210922
AA Change: N234K
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit paraparesis, ataxic hindlimbs and splaying of hindlimbs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,530,293 (GRCm39) |
|
probably null |
Het |
Adsl |
C |
G |
15: 80,848,110 (GRCm39) |
P118A |
probably damaging |
Het |
Ano6 |
C |
T |
15: 95,860,122 (GRCm39) |
P748L |
probably damaging |
Het |
Arhgap18 |
T |
A |
10: 26,722,104 (GRCm39) |
I25K |
possibly damaging |
Het |
AW551984 |
T |
C |
9: 39,508,481 (GRCm39) |
Y345C |
probably damaging |
Het |
Ccdc146 |
A |
G |
5: 21,510,329 (GRCm39) |
V561A |
probably benign |
Het |
Cenpv |
G |
A |
11: 62,418,398 (GRCm39) |
T185M |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,153,163 (GRCm39) |
D3683V |
probably damaging |
Het |
Galns |
T |
C |
8: 123,311,765 (GRCm39) |
D415G |
possibly damaging |
Het |
Gatad2a |
G |
A |
8: 70,369,070 (GRCm39) |
T259M |
probably damaging |
Het |
Gja8 |
T |
C |
3: 96,827,648 (GRCm39) |
S5G |
probably benign |
Het |
Ifi209 |
T |
C |
1: 173,466,542 (GRCm39) |
S125P |
probably damaging |
Het |
Iigp1c |
A |
G |
18: 60,379,142 (GRCm39) |
I226V |
probably benign |
Het |
Il12rb2 |
G |
A |
6: 67,269,246 (GRCm39) |
R856W |
probably damaging |
Het |
Kcnq3 |
A |
T |
15: 65,869,622 (GRCm39) |
Y605* |
probably null |
Het |
Klk1b16 |
T |
C |
7: 43,790,950 (GRCm39) |
S251P |
probably benign |
Het |
Map2 |
A |
G |
1: 66,453,779 (GRCm39) |
N890D |
probably damaging |
Het |
Map4 |
T |
A |
9: 109,863,746 (GRCm39) |
S324T |
probably benign |
Het |
Mmp28 |
T |
C |
11: 83,333,684 (GRCm39) |
D419G |
probably damaging |
Het |
Mtnr1b |
A |
G |
9: 15,774,210 (GRCm39) |
L283P |
probably benign |
Het |
Ndufb7 |
T |
A |
8: 84,298,063 (GRCm39) |
Y95N |
probably damaging |
Het |
Nfrkb |
C |
T |
9: 31,309,075 (GRCm39) |
R280W |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,174,245 (GRCm39) |
Y687H |
probably damaging |
Het |
Or6f1 |
A |
C |
7: 85,970,879 (GRCm39) |
F94V |
possibly damaging |
Het |
Or8b40 |
C |
T |
9: 38,027,923 (GRCm39) |
T277I |
probably benign |
Het |
Or8g51 |
T |
C |
9: 38,608,943 (GRCm39) |
T240A |
probably damaging |
Het |
Or8h9 |
T |
A |
2: 86,788,924 (GRCm39) |
R293* |
probably null |
Het |
Pabpc4l |
T |
C |
3: 46,401,044 (GRCm39) |
D200G |
probably benign |
Het |
Plekhg6 |
T |
C |
6: 125,349,514 (GRCm39) |
E361G |
possibly damaging |
Het |
Pramel31 |
A |
T |
4: 144,090,061 (GRCm39) |
D367V |
probably damaging |
Het |
Rictor |
A |
G |
15: 6,819,046 (GRCm39) |
Y1423C |
probably damaging |
Het |
Rsf1 |
G |
A |
7: 97,329,902 (GRCm39) |
D1143N |
probably damaging |
Het |
Spsb4 |
C |
T |
9: 96,877,627 (GRCm39) |
|
probably null |
Het |
Strada |
G |
T |
11: 106,061,843 (GRCm39) |
A136E |
probably damaging |
Het |
Syce2 |
A |
T |
8: 85,610,131 (GRCm39) |
Q73L |
probably damaging |
Het |
Teddm2 |
A |
T |
1: 153,726,130 (GRCm39) |
V195D |
probably benign |
Het |
Tex36 |
A |
T |
7: 133,203,712 (GRCm39) |
N12K |
probably benign |
Het |
Ubtf |
A |
G |
11: 102,199,785 (GRCm39) |
S484P |
probably benign |
Het |
Ufd1 |
T |
G |
16: 18,636,680 (GRCm39) |
L66R |
probably damaging |
Het |
Vmn2r74 |
C |
T |
7: 85,601,197 (GRCm39) |
A814T |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
possibly damaging |
Het |
Xrcc1 |
T |
A |
7: 24,267,353 (GRCm39) |
|
probably null |
Het |
Zfp277 |
A |
C |
12: 40,385,308 (GRCm39) |
C305G |
probably damaging |
Het |
Zfp998 |
A |
T |
13: 66,579,740 (GRCm39) |
C248S |
probably damaging |
Het |
|
Other mutations in Arhgap10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01529:Arhgap10
|
APN |
8 |
78,072,920 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01689:Arhgap10
|
APN |
8 |
78,137,763 (GRCm39) |
splice site |
probably benign |
|
IGL01802:Arhgap10
|
APN |
8 |
78,146,714 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01832:Arhgap10
|
APN |
8 |
77,985,758 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02291:Arhgap10
|
APN |
8 |
78,109,344 (GRCm39) |
splice site |
probably benign |
|
IGL02834:Arhgap10
|
APN |
8 |
78,091,729 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02928:Arhgap10
|
APN |
8 |
77,977,539 (GRCm39) |
unclassified |
probably benign |
|
IGL03149:Arhgap10
|
APN |
8 |
78,136,167 (GRCm39) |
splice site |
probably benign |
|
IGL03215:Arhgap10
|
APN |
8 |
78,003,781 (GRCm39) |
missense |
probably benign |
|
IGL03331:Arhgap10
|
APN |
8 |
78,146,711 (GRCm39) |
missense |
probably damaging |
0.99 |
R0276:Arhgap10
|
UTSW |
8 |
78,140,210 (GRCm39) |
missense |
probably benign |
0.11 |
R0376:Arhgap10
|
UTSW |
8 |
78,177,453 (GRCm39) |
splice site |
probably benign |
|
R0454:Arhgap10
|
UTSW |
8 |
77,977,594 (GRCm39) |
missense |
probably damaging |
0.97 |
R0714:Arhgap10
|
UTSW |
8 |
78,078,316 (GRCm39) |
splice site |
probably benign |
|
R1033:Arhgap10
|
UTSW |
8 |
77,983,976 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1036:Arhgap10
|
UTSW |
8 |
78,037,398 (GRCm39) |
missense |
probably damaging |
0.98 |
R1083:Arhgap10
|
UTSW |
8 |
78,244,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R1596:Arhgap10
|
UTSW |
8 |
78,177,326 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1710:Arhgap10
|
UTSW |
8 |
78,085,216 (GRCm39) |
nonsense |
probably null |
|
R1918:Arhgap10
|
UTSW |
8 |
77,985,708 (GRCm39) |
missense |
probably benign |
|
R1937:Arhgap10
|
UTSW |
8 |
78,071,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Arhgap10
|
UTSW |
8 |
78,136,255 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2348:Arhgap10
|
UTSW |
8 |
78,177,555 (GRCm39) |
splice site |
probably benign |
|
R3703:Arhgap10
|
UTSW |
8 |
77,985,685 (GRCm39) |
critical splice donor site |
probably null |
|
R3979:Arhgap10
|
UTSW |
8 |
78,147,354 (GRCm39) |
missense |
probably benign |
0.01 |
R4854:Arhgap10
|
UTSW |
8 |
78,146,718 (GRCm39) |
nonsense |
probably null |
|
R4855:Arhgap10
|
UTSW |
8 |
78,159,367 (GRCm39) |
critical splice donor site |
probably null |
|
R4928:Arhgap10
|
UTSW |
8 |
78,152,957 (GRCm39) |
critical splice donor site |
probably null |
|
R5033:Arhgap10
|
UTSW |
8 |
78,109,386 (GRCm39) |
missense |
probably damaging |
0.99 |
R5644:Arhgap10
|
UTSW |
8 |
78,137,684 (GRCm39) |
missense |
probably benign |
0.00 |
R5781:Arhgap10
|
UTSW |
8 |
78,177,336 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5824:Arhgap10
|
UTSW |
8 |
78,085,181 (GRCm39) |
nonsense |
probably null |
|
R5861:Arhgap10
|
UTSW |
8 |
78,037,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R5872:Arhgap10
|
UTSW |
8 |
78,071,267 (GRCm39) |
critical splice donor site |
probably null |
|
R6360:Arhgap10
|
UTSW |
8 |
77,985,831 (GRCm39) |
nonsense |
probably null |
|
R6423:Arhgap10
|
UTSW |
8 |
78,244,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R6694:Arhgap10
|
UTSW |
8 |
78,137,692 (GRCm39) |
missense |
probably benign |
0.00 |
R6900:Arhgap10
|
UTSW |
8 |
78,037,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R6936:Arhgap10
|
UTSW |
8 |
78,037,376 (GRCm39) |
nonsense |
probably null |
|
R7001:Arhgap10
|
UTSW |
8 |
78,091,717 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7150:Arhgap10
|
UTSW |
8 |
77,977,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R7461:Arhgap10
|
UTSW |
8 |
78,115,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R7525:Arhgap10
|
UTSW |
8 |
78,146,699 (GRCm39) |
critical splice donor site |
probably null |
|
R8051:Arhgap10
|
UTSW |
8 |
78,244,309 (GRCm39) |
missense |
probably damaging |
0.97 |
R8081:Arhgap10
|
UTSW |
8 |
78,109,375 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8175:Arhgap10
|
UTSW |
8 |
78,037,471 (GRCm39) |
missense |
probably benign |
0.03 |
R8262:Arhgap10
|
UTSW |
8 |
78,037,468 (GRCm39) |
missense |
probably benign |
|
R8702:Arhgap10
|
UTSW |
8 |
77,985,732 (GRCm39) |
missense |
probably benign |
|
R8778:Arhgap10
|
UTSW |
8 |
78,140,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R9015:Arhgap10
|
UTSW |
8 |
77,985,687 (GRCm39) |
missense |
probably benign |
|
R9113:Arhgap10
|
UTSW |
8 |
77,985,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R9275:Arhgap10
|
UTSW |
8 |
78,137,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R9457:Arhgap10
|
UTSW |
8 |
78,111,415 (GRCm39) |
missense |
probably benign |
0.43 |
R9623:Arhgap10
|
UTSW |
8 |
77,985,786 (GRCm39) |
missense |
probably benign |
|
Z1176:Arhgap10
|
UTSW |
8 |
78,159,434 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Arhgap10
|
UTSW |
8 |
78,003,804 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCCTCATCAGCTTCAGAG -3'
(R):5'- TTTCAGGACGTGACAGACAG -3'
Sequencing Primer
(F):5'- GAGCCATGTGTTACACCAAAGTTGAC -3'
(R):5'- TCCGGATGGCAGTGCTCTG -3'
|
Posted On |
2017-12-01 |